Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804153 | SCV000944049 | uncertain significance | Werner syndrome | 2023-06-01 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 649261). This variant has not been reported in the literature in individuals affected with WRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 319 of the WRN protein (p.Ser319Phe). |
Prevention |
RCV003411772 | SCV004114262 | uncertain significance | WRN-related condition | 2022-10-06 | criteria provided, single submitter | clinical testing | The WRN c.956C>T variant is predicted to result in the amino acid substitution p.Ser319Phe. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In ClinVar, this variant is interpreted as uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/649261/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |